Ilhan Osman, Ozdemir Zehra Narli, Ozet Gulsum, Falay Mesude, Yenerel Mustafa, Tuglular Tulin, Turgut Mehmet, Guvenc Birol, Unal Ali, Ayyıldız Orhan, Andic Neslihan, Hacıhanefioglu Abdullah, Sahin Fahri, Sencan Mehmet, Ali Ridvan, Ozsan Guner Hayri, Yildirim Rahsan, Tiftik Eyup Naci, Tombak Anıl, Salim Ozan, Kaya Emin, Akay Olga Meltem, Okan Vahap, Pehlivan Mustafa, Saydam Guray
Ankara University School of Medicine, Turkey.
Ankara University School of Medicine, Turkey.
Transfus Apher Sci. 2019 Oct;58(5):659-662. doi: 10.1016/j.transci.2019.08.021. Epub 2019 Sep 6.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease presenting with variable and various clinical findings. PNH might be overlooked and diagnosis may be delayed due to low awareness about PNH. This is the first multicenter study in Turkey, investigating the efficiency of diagnostic screening of PNH by multiparameter flow cytometry (FCM) according to consensus guidelines.
We evaluate the efficiency of consensus clinical indications for PNH testing with FCM in 1689peripheral blood samples from 20 centers between January 2014 and December 2017.
Overall, at the 20 centers contributing to this study, PNH clone were detected in 62/1689 samples (3.6%) by FCM test. 75.8% (n = 47) of patients with PNH clone had aplastic anemia, 3.2% (n = 2) had Coombs (-) hemolytic anemia, 6.5% (n = 4) had unexplained cytopenia, 3.2% (n = 2) had MDS with refractory anemia, 1.6% (n = 1) had hemoglobinuria and 9.7% (n = 6) had others (elevated LDH, splenomegaly, etc.). In contrast, we detect no PNH clone test in patients who were screened for unexplained thrombosis.
Our study showed that current clinical indications for PNH testing are highly efficient and diagnostic screening of suspected patients for PNH with FCM is recommended. However, advanced screening algorithms are required for patients presenting with unexplained thrombosis and normal complete blood count.
阵发性睡眠性血红蛋白尿（PNH）是一种罕见疾病，临床表现多样。由于对PNH认识不足，该病可能被忽视，诊断也可能延迟。这是土耳其的第一项多中心研究，根据共识指南调查多参数流式细胞术（FCM）对PNH进行诊断筛查的效率。
我们评估了2014年1月至2017年12月期间来自20个中心的1689份外周血样本中，采用FCM进行PNH检测的共识临床指征的效率。
总体而言，在参与本研究的20个中心，通过FCM检测在62/1689份样本（3.6%）中检测到PNH克隆。75.8%（n = 47）的PNH克隆患者患有再生障碍性贫血，3.2%（n = 2）患有抗人球蛋白试验（-）溶血性贫血，6.5%（n = 4）患有不明原因血细胞减少，3.2%（n = 2）患有伴有难治性贫血的骨髓增生异常综合征，1.6%（n = 1）患有血红蛋白尿，9.7%（n = 6）患有其他疾病（乳酸脱氢酶升高、脾肿大等）。相比之下，在接受不明原因血栓筛查的患者中未检测到PNH克隆试验。
我们的研究表明，目前PNH检测的临床指征效率很高，建议对疑似PNH患者采用FCM进行诊断筛查。然而，对于不明原因血栓形成且全血细胞计数正常的患者，需要先进的筛查算法。
